Genes e epilepsia I: epilepsia e alterações genéticas

Gitaí, Daniel Leite Góes; Romcy-Pereira, Rodrigo Neves; Gitaí, Lívia Leite Góes; Leite, João Pereira; García-Cairasco, Norberto; Paçó-Larson, Maria Luísa

doi:10.1590/s0104-42302008000300023

Cited by 12 publications

(9 citation statements)

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“…However, the identification of these susceptibility alleles is challenging[25,26]. One widely used experimental approach to investigate common variants is genetic association analysis of candidate genes selected according to their molecular function.…”

Section: Introductionmentioning

confidence: 99%

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

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BackgroundSeveral genetic association investigations have been performed over the last three decades to identify variants underlying Juvenile Myoclonic Epilepsy (JME). Here, we evaluate the accumulating findings and provide an updated perspective of these studies.MethodologyA systematic literature search was conducted using the PubMed, Embase, Scopus, Lilacs, epiGAD, Google Scholar and Sigle up to February 12, 2016. The quality of the included studies was assessed by a score and classified as low and high quality. Beyond outcome measures, information was extracted on the setting for each study, characteristics of population samples and polymorphisms.ResultsFifty studies met eligibility criteria and were used for data extraction. With a single exception, all studies used a candidate gene approach, providing data on 229 polymorphisms in or near 55 different genes. Of variants investigating in independent data sets, only rs2029461 SNP in GRM4, rs3743123 in CX36 and rs3918149 in BRD2 showed a significant association with JME in at least two different background populations. The lack of consistent associations might be due to variations in experimental design and/or limitations of the approach.ConclusionsThus, despite intense research evidence established, specific genetic variants in JME susceptibility remain inconclusive. We discussed several issues that may compromise the quality of the results, including methodological bias, endophenotype and potential involvement of epigenetic factors.PROSPERO registration numberCRD42016036063

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Section: Introductionmentioning

confidence: 99%

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

et al. 2017

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“…As desordens hereditárias são causadas por mutações em genes que codificam essas moléculas 7 , tanto os canais sensíveis à voltagem (Na + , K + , Ca 2+ e Cl -), quanto os sensíveis aos ligantes, como o receptor nicotínico da acetilcolina (nAChR), receptor GABA A do ácido gama-amino-butírico (GABA) e os receptores dos tipos AMPA e NMDA do glutamato. A relação entre os fatores genéticos e o fenótipo da doença determina a classificação das epilepsias em monogênicas, quando a mutação em um único locus gênico é responsável pelo estabelecimento da desordem; e em poligênicas, quando o componente genéti-co apenas determina um limiar de susceptibilidade 8 .…”

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Canais Iônicos na Epilepsia

Silva

Souza

Silva

2014

Medicina (Ribeirão Preto)

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RESUMODados da Organização Mundial da Saúde apontaram uma prevalência mundial de epilepsia por volta de 50 milhões de pessoas. A crise epiléptica é um período de excitação síncrona anormal de uma população de neurônios. O balanço entre sistemas de controle que impedem uma descarga de potencial de ação excessiva nos neurônios e outros sistemas que facilitam a excitação mantém o bom funcionamento do sistema nervoso. Este trabalho teve como objetivo compilar informações sobre o envolvimento das canalopatias no processo fisiopatológico das crises epilépticas. Foi realizada uma revisão de literatura, através de pesquisas bibliográficas utilizando os bancos de dados Medline/PubMed, Scielo, Scirus, Wiley Online Library e Science Direct. Para tal finalidade, os descritores utilizados foram: epilepsia, crises epilépticas, canais iônicos, canalopatias e epidemiologia, em idiomas português e inglês. As investigações genéticas fizeram com que algumas síndromes epilépticas fossem consideradas canalopatias e, por conseguinte, aumentaram o entendimento da fisiopatologia dos transtonos convulsivos. Dada à incapacidade de cura dos fármacos disponíveis atualmente, o grande desafio para as pesquisas científicas é a descoberta de um tratamento capaz de prevenir ou reverter a epilepsia.Palavras-chave. Crise Epiléptica, Canais Iônicos, Canalopatias.

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“…Despite the existence of rare mutations responsible for some familial forms inherited in a mendelian pattern, the genetics of JME is complex and probably reflect the simultaneous involvement of multiple genes with minor effect and environmental factors 3 . The identification of these susceptibility genes is a great challenge 4 . For this purpose, an experimental approach that has been widely used is genetic association studies directed to candidate genes selected according to their molecular function.…”

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Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

Born

Santos

Secolin

et al. 2015

Arq. Neuro-Psiquiatr.

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Juvenile myoclonic epilepsy (JME) is a subtype of common idiopathic generalized epilepsy (IGE) and accounts for 10% of all forms of epilepsy and up to 26% of IGE. Onset is at puberty with equal sex ratio and it is characterized by myoclonic jerks, occasional generalized tonic-clonic seizures, and sometimes absence seizures 1 . It is also highly drug-dependent, since a ABSTRACTJuvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective: The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results: The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion: These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.Keywords: polymorphism, prothrombin, juvenile myoclonic epilepsy. RESUMOEpilepsia mioclônica juvenil (EMJ) representa 26% das síndromes epilépticas idiopáticas generalizadas. Níveis elevados de atividade da trombina estão intimamente envolvidos no desenvolvimento de distúrbios neurológicos, incluindo epilepsia. A variante c.20210G>A (rs1799963) do gene de protrombina, que altera a estabilidade do RNAm, está associada com altos níveis de protrombina no plasma. Objetivo: Investigar se o SNP rs1799963 é um fator de risco para EMJ em uma amostra da população do nordeste brasileiro. Resultados: O polimorfismo foi genotipado em 123 pacientes e 207 controles usando a reação de polimerase em cadeia com restrição de polimorfismo. Não observamos diferença significativa nas frequências alélicas e genotípicas deste polimorfismo, entre as populações de pacientes e controle. Conclusão: Estes resultados não demonstram evidências para uma associação do polimorfismo rs1799963 com EMJ. Estudos posteriores, incluindo outros tipos de epilepsia, são necessários para investigar o envolvimento do gene protrombina na susceptibilidade genética a crises crônicas.Palavras-chave: polimorfismo, protrombina, epilepsia mioclônica juvenil. 290Arq Neuropsiquiatr 2015;73(4):289-292 frequent recurrence is reported after antiepileptic drugs (AED) discontinuation 2 . Genetic factors are known to play an important role in the etiology of JME. Despite the existence of rare mutations responsible for some familial forms inherited in a mendelian pattern, the genetics of JME is complex and probably reflect the simultaneous involvement of multiple genes...

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Genes e epilepsia I: epilepsia e alterações genéticas

Cited by 12 publications

References 36 publications

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies

Canais Iônicos na Epilepsia

Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy

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